Isifo seWaardenburg

I-Waardenburg syndrome liqela leemeko ezidlulayo kwiintsapho. Isifo esi kubandakanya ukungeva kunye nolusu olukhanyayo, iinwele kunye nombala wamehlo.

I-Waardenburg syndrome ihlala izuzwa njengelona phawu lubalaseleyo lwe-autosomal. Oku kuthetha ukuba ngumzali omnye kuphela ekufuneka edlulise uhlobo olungalunganga lomntwana ukuze achaphazeleke.

Kukho iintlobo ezine eziphambili ze-Waardenburg syndrome. Ezona ziqhelekileyo luhlobo I nohlobo II.

Uhlobo lwe-III (i-Klein-Waardenburg syndrome) kunye nohlobo IV (iWaardenburg-Shah syndrome) zinqabile.

Iindidi ezininzi zesi sifo zibangelwa ziziphene kwimfuza eyahlukeneyo. Uninzi lwabantu abanesi sifo banabazali abanesi sifo, kodwa iimpawu kumzali zinokwahluka kakhulu kwezo zisemntwaneni.

Iimpawu zingabandakanya:

• Umlomo ococekileyo (onqabileyo)
• Ukuqunjelwa
• Izithulu (eziqhelekileyo kwisifo sohlobo II)
• Amehlo aluhlaza amthubi kakhulu okanye imibala yamehlo engahambelani (heterochromia)
• Umbala webala elimhlophe, iinwele namehlo (ialbinism ekhethekileyo)
• Ubunzima bokulungisa ngokupheleleyo amalungu
• Ukuhla okuncinci okunokwenzeka kokusebenza kwengqondo
• Amehlo asetiweyo ngokubanzi (ngohlobo I)
• Izinwele ezimhlophe okanye ukungwevu kwangoko kweenwele

Iindidi eziqhelekileyo zesi sifo zinokubangela iingxaki kwiingalo okanye emathunjini.

Uvavanyo lunokubandakanya:

• Iaudiometry
• Ixesha lokuhamba kwesisu
• IColon biopsy
• Uvavanyo lwemfuzo

Akukho lonyango luthile. Iimpawu ziya kunyangwa xa kufuneka njalo. Ukutya okukhethekileyo kunye namayeza okugcina isisu sihamba amiselwe abo bantu banokuqhinwa. Ukuva kufuneka kuhlolwe ngokusondeleyo.

Nje ukuba iingxaki zokuva zilungiswe, uninzi lwabantu abanesi sifo kufuneka lukwazi ukuphila ubomi obuqhelekileyo. Abo baneefom ezinqabileyo zesifo banokufumana ezinye iingxaki.

Iingxaki zinokubandakanya:

• Ukuqunjelwa kunzima ngokwaneleyo ukuba kufuneke kususwe inxalenye yamathumbu amakhulu
• Ukuphulukana nokuva
• Iingxaki zokuzithemba, okanye ezinye iingxaki ezinxulumene nembonakalo
• Ukuncipha kokuncipha kokusebenza kwengqondo (kunokwenzeka, engaqhelekanga)

Ukucebisa ngemfuza kunokuba luncedo ukuba unembali yosapho eWaardenburg syndrome kwaye uceba ukuba nabantwana. Fowunela umboneleli wakho wezempilo kuvavanyo lokuva ukuba wena okanye umntwana wakho unendlebe okanye wehlile ukuva.

Isifo seKlein-Waardenburg; Isifo seWaardenburg-Shah

• Ibhulorho ebanzi ngeempumlo
• Ukuva

ICipriano SD, iZone JJ. Isifo se-Neurocutaneous. Ku: Callen JP, Jorizzo JL, Zone JJ, Piette WW, Rosenbach MA, Vleugels RA, ii-eds. Iimpawu zesifo seSifo seNkqubo. Umhla we-5. IPhiladelphia, PA: Elsevier; Ngo-2017: isahluko 40.

IKliegman RM, iSt. Geme JW, iBlum NJ, i-Shah SS, iTasker RC, uWilson KM. Iziphene kwimetabolism yeeamino acid. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahl. 103.

IMilunsky JM. Uhlobo lwe-Waardenburg syndrome Uphononongo lweGene. PMID: 20301703 www.ncbi.nlm.nih.gov/pubmed/20301703. Ukuhlaziywa ngoMeyi 4, 2017. Kufikeleleke ngoJulayi 31, 2019.